agrin

Summary
Gene Symbol
  • AGRN
Organism
Homo sapiens (human)
External Links
NCBI Gene
375790
HGNC
329
KEGG Gene ID
hsa:375790
PubChem
375790
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Calcium
  • Cell membrane
  • Congenital myasthenic syndrome
  • Developmental protein
  • Differentiation
  • Disease variant
  • Disulfide bond
  • EGF-like domain
  • Extracellular matrix
  • Heparan sulfate
  • Laminin EGF-like domain
  • Metal-binding
  • Phosphoprotein
  • Reference proteome
  • Repeat
  • Signal
  • Synapse
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
O00468
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000188157

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K06254
Name
agrin
References
Disease
Disease Ontology
Displaying entries 11 - 20 of 58 in total
DO ID Disease Name Source
DOID:0110043 Alzheimer's disease 10
DOID:0110044 Alzheimer's disease 11
DOID:0110045 Alzheimer's disease 12
DOID:0110046 Alzheimer's disease 13
DOID:0110047 Alzheimer's disease 14
DOID:0110048 Alzheimer's disease 15
DOID:0110657 congenital myasthenic syndrome 8
DOID:0110668 congenital myasthenic syndrome 10
DOID:0111375 fetal akinesia deformation sequence syndrome
DOID:0111377 fetal akinesia deformation sequence syndrome 1
The Human Phenotype Ontology
Displaying entries 81 - 90 of 95 in total
HPO ID HPO Term
HP:0009005 Weakness of the intrinsic hand muscles
HP:0009046 Difficulty running
HP:0009053 Distal lower limb muscle weakness
HP:0009077 Weakness of long finger extensor muscles
HP:0010307 Stridor
HP:0010536 Central sleep apnea
HP:0010628 Facial palsy
HP:0011463 Childhood onset
HP:0011469 Nasal regurgitation
HP:0011968 Feeding difficulties
Displaying all 3 entries
Disease ID Disease Name
ORPHA:98913
  • postsynaptic congenital myasthenic syndrome
ORPHA:98914
  • obsolete presynaptic congenital myasthenic syndrome
OMIM:615120
  • congenital myasthenic syndrome 8
Ortholog
Displaying entries 61 - 62 of 62 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
103252923 CARSF30906
115617376 STRHB16499

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024